一例产前诊断45，X/47，XYY/46，XY嵌合体病例分析
A Case Analysis of Prenatal Diagnosis 45, X/47, XYY/46, XY Chimerism
DOI: 10.12677/ACM.2024.142570, PDF,   
作者: 戴勤慧, 王 宁*：青岛大学附属医院妇科，山东 青岛；张翠萍：安丘市人民医院产科，山东 潍坊
关键词: 侧脑室增宽；荧光原位杂交；染色体微阵列分析；Lateral Ventricular Widening； Fluorescence in Situ Hybridization； Chromosomal Microarray Analysis
摘要: 目的：一例侧脑室轻度增宽行产前诊断为45，X/47，XYY/46，XY嵌合体病例分析。方法：用染色体微阵列比较基因组杂交检测(chromosomal microarray analysis, CMA)和荧光原位杂交技术(fluorescence in situ hybridization, FISH)进行羊水穿刺，分析确定其异常核型及嵌合比例。结果：CMA显示为X染色体拷贝数为1，Y染色体Yp11.32q11.223区段拷贝数为1，Yq11.223q11.23区段拷贝数为零，FISH结果提示nucish (CSPX * 1) [97/250]/(CSPX * 1, CSPY * 2) [22/250]/(CSPX * 1, CSPY * 1) [13/250]，引产后胎儿外生殖器显示为男性，余未见明显异常。结论：对于临床超声提示异常的患者，充分应用CMA技术和FISH技术结果进行综合分析胎儿是否能存活及后续生活质量。
Abstract: Objective: To analyze a case of 45, X/47, XYY/46, XY chimera with prenatal diagnosis of mild wid-ening of the lateral ventricles. Methods: Amniocentesis was performed by chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) to determine the abnormal karyotype and chimeric ratio. Results: CMA showed that the copy number of X chromosome was 1, the copy number of Yp11.32q11.223 segment of Y chromosome was 1, and the copy number of Yq11.223q11.23 segment was zero, and the FISH results showed that nucish (CSPX * 1) [97/250]/(CSPX * 1, CSPY * 2) [22/250]/(CSPX * 1, CSPY * 1) [13/250], and the fetal external geni-talia showed male after labor induction. No significant abnormalities were observed. Conclusion: For patients with abnormal clinical ultrasound, the results of CMA technology and FISH technology were fully used to comprehensively analyze whether the fetus can survive and improve the quality of life.
文章引用：戴勤慧, 张翠萍, 王宁. 一例产前诊断45，X/47，XYY/46，XY嵌合体病例分析[J]. 临床医学进展, 2024, 14(2): 4102-4106. https://doi.org/10.12677/ACM.2024.142570

参考文献

[1] 高春利, 窦娟, 杨水艳. 胎儿临界性侧脑室增宽与拷贝数变异及孕妇妊娠结局的相关性[J]. 中华医学遗传学杂志, 2021, 38(12): 1254-1257. [Google Scholar] [CrossRef] [PubMed]
[2] 饶慧华, 刘艳秋, 袁慧珍, 等. 胎儿侧脑室增宽的产前诊断策略及妊娠结局[J]. 中国优生与遗传杂志, 2023, 31(12): 2495-2500. [Google Scholar] [CrossRef] 
[3] Gezer, C., Ekin, A., Ozeren, M., Taner, C.E., Ozer, O., Koc, A., Bilgin, M. and Gezer, N.S. (2014) Chromosome Abnormality Incidence in Fetuses with Cerebral Ventriculomegaly. Journal of Obstetrics and Gynaecology, 34, 387-391. [Google Scholar] [CrossRef] [PubMed]
[4] Wang, J., Zhang, Z., Li, Q., Zhu, H., Lai, Y., Luo, W., Liu, S., Wang, H. and Hu, T. (2020) Prenatal Diagnosis of chromosomal aberrations by Chromosomal Microarray Analysis in Foetuses with Ventriculomegaly. Scientific Reports, 10, Article Number: 20765. [Google Scholar] [CrossRef] [PubMed]
[5] 刘丹平, 刘艳秋, 马鹏鹏, 等. 一例mos 45, X/46, XY/47, XYY胎儿产前诊断病例分析[J]. 江西医药, 2021, 56(2): 209-211.
[6] 李显筝, 许玲, 胡晶晶, 等. 荧光原位杂交技术在产前诊断染色体嵌合体中的应用价值[J]. 国际生殖健康/计划生育杂志, 2020, 39(2): 104-108.
[7] 王艳, 胡平, 许争峰. 胎儿侧脑室增宽与拷贝数变异的研究进展[J]. 临床检验杂志, 2018, 36(11): 837-840. [Google Scholar] [CrossRef] 
[8] 段福慧, 杨锡彤, 罗雪颜, 等. 染色体嵌合体在基因检测中的研究进展[J]. 海南医学, 2023, 34(13): 1956-1959.
[9] 尹帅, 崔世红, 刘灵, 等. 孤立性轻度侧脑室增宽胎儿产前诊断及预后[J]. 河南医学研究, 2023, 32(6): 970-974.
[10] Shaffer, L.G., Rosenfeld, J.A., Dabell, M.P., Cop-pinger, J., Bandholz, A.M., Ellison, J.W., Ravnan, J.B., Torchia, B.S., Ballif, B.C. and Fisher, A.J. (2012) Detection Rates of Clinically Significant Genomic Alterations by Microarray Analysis for Specific Anomalies Detected by Ultra-sound. Prenatal Diagnosis, 32, 986-995. [Google Scholar] [CrossRef] [PubMed]

为你推荐